1. Brookman-Frazee L, Baker-Ericzen M, Stadnick N, Taylor R. {{Parent Perspectives on Community Mental Health Services for Children with Autism Spectrum Disorders}}. {J Child Fam Stud};2012 (Aug 1);21(4)
The community mental health (CMH) system provides treatment for behavioral and psychiatric problems in children with autism spectrum disorders (ASD). Although parent stakeholder perspectives are important to improving care, these perspectives have not been systematically examined for this population in the CMH sector. Twenty-one semi-structured qualitative interviews were conducted with parents of children with ASD who received services in CMH clinics. Themes related to child clinical histories, service access and experiences with the CMH system revealed a specific trajectory of service need identification, obtaining a diagnosis, and experience with services. Each trajectory stage was marked by high parent stress. Results provide information about the characteristics of children with ASD served in community mental health clinics and direction for targeted improvement efforts.
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2. Eisinger BE, Saul MC, Driessen TM, Gammie SC. {{Development of a versatile enrichment analysis tool reveals associations between the maternal brain and mental health disorders, including autism}}. {BMC Neurosci};2013 (Nov 19);14(1):147.
: A recent study of lateral septum (LS) suggested a large number of autism-related genes with altered expression in the postpartum state. However, formally testing the findings for enrichment of autism-associated genes proved to be problematic with existing software. Many gene-disease association databases have been curated which are not currently incorporated in popular, full-featured enrichment tools, and the use of custom gene lists in these programs can be difficult to perform and interpret. As a simple alternative, we have developed the Modular Single-set Enrichment Test (MSET), a minimal tool that enables one to easily evaluate expression data for enrichment of any conceivable gene list of interest. RESULTS: The MSET approach was validated by testing several publicly available expression data sets for expected enrichment in areas of autism, attention deficit hyperactivity disorder (ADHD), and arthritis. Using nine independent, unique autism gene lists extracted from association databases and two recent publications, a striking consensus of enrichment was detected within gene expression changes in LS of postpartum mice. A network of 160 autism-related genes was identified, representing developmental processes such as synaptic plasticity, neuronal morphogenesis, and differentiation. Additionally, maternal LS displayed enrichment for genes associated with bipolar disorder, schizophrenia, ADHD, and depression. CONCLUSIONS: The transition to motherhood includes the most fundamental social bonding event in mammals and features naturally occurring changes in sociability. Some individuals with autism, schizophrenia, or other mental health disorders exhibit impaired social traits. Genes involved in these deficits may also contribute to elevated sociability in the maternal brain. To date, this is the first study to show a significant, quantitative link between the maternal brain and mental health disorders using large scale gene expression data. Thus, the postpartum brain may provide a novel and promising platform for understanding the complex genetics of improved sociability that may have direct relevance for multiple psychiatric illnesses. This study also provides an important new tool that fills a critical analysis gap and makes evaluation of enrichment using any database of interest possible with an emphasis on ease of use and methodological transparency.
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3. Feng L. {{Autism in children born after in vitro fertilization}}. {JAMA};2013 (Nov 20);310(19):2100-2101.
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4. Hedvall A, Westerlund J, Fernell E, Holm A, Gillberg C, Billstedt E. {{Autism and developmental profiles in preschoolers: stability and change over time}}. {Acta Paediatr};2013 (Oct 8)
AIM: Increasing numbers of young children are now being diagnosed with autism spectrum disorder (ASD). This study aimed to analyse developmental trajectories in a representative group of preschool children with ASD. METHOD: In a naturalistic study, 208 preschool children with different subtypes of ASD were followed over a 2-year period. Their trajectories, as regards persistence of ASD diagnoses, developmental/intellectual levels, adaptive functioning and expressive speech, were monitored. RESULTS: Developmental profiles showed considerable change over time, especially in children with atypical autism and in those with developmental delay/borderline intellectual functioning at their first assessment. Approximately 50% of the children were found to have intellectual disability (ID) at follow-up and, of these, the majority had severe ID. This was in contrast to the first assessment by the referral team when ID had rarely been mentioned or discussed. CONCLUSION: Changes in developmental profiles during preschool years are common in children with ASD. This implies that reassessments, covering different developmental areas, are needed. Such follow-up assessments prior to the start of school will yield a more valid estimation of the child’s general cognitive level and a more accurate ASD diagnosis and thus form a better basis for realistic educational planning and intervention.
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5. Johnson NL, Bekhet A, Robinson K, Rodriguez D. {{Attributed Meanings and Strategies to Prevent Challenging Behaviors of Hospitalized Children With Autism: Two Perspectives}}. {J Pediatr Health Care};2013 (Nov 14)
INTRODUCTION: Understanding is limited of the meaning attributed to behaviors of children with autism spectrum disorder and strategies used to prevent challenging behaviors in the context of hospitalization. METHODS: This qualitative study consisted of two focus groups (n = 10; five mothers and five health care providers [HCPs]). Transcripts were analyzed using the qualitative method of narrative inquiry. RESULTS: The meaning attributed to behaviors by the mothers and the HCPs differed. The mothers attributed behaviors to the child’s communication of frustration, hyperactivity, and self-calming. The HCPs attributed challenging behaviors to self-stimulation and child aggression. Strategies to prevent behaviors also differed. Mothers focused on preparation prior to hospitalization and attempts to partner with HCPs. HCPs identified fewer strategies and consulted mothers for strategies to manage challenging behaviors. DISCUSSION: HCP and parent collaboration could lead to strategies to increase supports for children with autism spectrum disorder in the hospital to decrease their frustration and challenging behaviors.
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6. Lanz TA, Guilmette E, Gosink MM, Fischer JE, Fitzgerald LW, Stephenson DT, Pletcher MT. {{Transcriptomic analysis of genetically defined autism candidate genes reveals common mechanisms of action}}. {Mol Autism};2013 (Nov 15);4(1):45.
BACKGROUND: Austism spectrum disorder (ASD) is a heterogeneous behavioral disorder or condition characterized by severe impairment of social engagement and the presence of repetitive activities. The molecular etiology of ASD is still largely unknown despite a strong genetic component. Part of the difficulty in turning genetics into disease mechanisms and potentially new therapeutics is the sheer number and diversity of the genes that have been associated with ASD and ASD symptoms. The goal of this work is to use shRNA-generated models of genetic defects proposed as causative for ASD to identify the common pathways that might explain how they produce a core clinical disability. METHODS: Transcript levels of Mecp2, Mef2a, Mef2d, Fmr1, Nlgn1, Nlgn3, Pten, and Shank3 were knocked-down in mouse primary neuron cultures using shRNA constructs. Whole genome expression analysis was conducted for each of the knockdown cultures as well as a mock-transduced culture and a culture exposed to a lentivirus expressing an anti-luciferase shRNA. Gene set enrichment and a causal reasoning engine was employed to identify pathway level perturbations generated by the transcript knockdown. RESULTS: Quantification of the shRNA targets confirmed the successful knockdown at the transcript and protein levels of at least 75 % for each of the genes. After subtracting out potential artifacts caused by viral infection, gene set enrichment and causal reasoning engine analysis showed that a significant number of gene expression changes mapped to pathways associated with neurogenesis, long-term potentiation, and synaptic activity. CONCLUSIONS: This work demonstrates that despite the complex genetic nature of ASD, there are common molecular mechanisms that connect many of the best established autism candidate genes. By identifying the key regulatory checkpoints in the interlinking transcriptional networks underlying autism, we are better able to discover the ideal points of intervention that provide the broadest efficacy across the diverse population of autism patients.
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7. Luck AN, Bobst CE, Kaltashov IA, Mason AB. {{Human Serum Transferrin: Is There a Link among Autism, High Oxalate Levels, and Iron Deficiency Anemia?}}. {Biochemistry};2013 (Nov 19);52(46):8333-8341.
It has been previously suggested that large amounts of oxalate in plasma could play a role in autism by binding to the bilobal iron transport protein transferrin (hTF), thereby interfering with iron metabolism by inhibiting the delivery of iron to cells. By examining the effect of the substitution of oxalate for the physiologically utilized synergistic carbonate anion in each lobe of hTF, we sought to provide a molecular basis for or against such a role. Our work clearly shows both qualitatively (6 M urea gels) and quantitatively (kinetic analysis by stopped-flow spectrofluorimetry) that the presence of oxalate in place of carbonate in each binding site of hTF does indeed greatly interfere with the removal of iron from each lobe (in the absence and presence of the specific hTF receptor). However, we also clearly demonstrate that once the iron is bound within each lobe of hTF, neither anion can displace the other. Additionally, as verified by urea gels and electrospray mass spectrometry, formation of completely homogeneous hTF-anion complexes requires that all iron must first be removed and hTF then reloaded with iron in the presence of either carbonate or oxalate. Significantly, experiments described here show that carbonate is the preferred binding partner; i.e., even if an equal amount of each anion is available during the iron loading process, the hTF-carbonate complex is formed.
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8. Lugo JN, Smith GD, Morrison JB, White J. {{Deletion of PTEN produces deficits in conditioned fear and increases fragile X mental retardation protein}}. {Learn Mem};2013;20(12):670-673.
The phosphatase and tensin homolog detected on chromosome 10 (PTEN) gene product modulates activation of the phosphatidylinositol 3-kinase (PI3K)/AKT pathway. The PI3K pathway has been found to be involved in the regulation of the fragile X mental retardation protein, which is important for long-term depression and in the formation of new memories. We used delayed fear conditioning and trace fear conditioning to determine learning and memory deficits in neuron subset-specific Pten (NS-Pten) conditional knockout (KO) mice. We found that NS-Pten KO mice had deficits in contextual learning and trace conditioning, but did not have deficits in the ability to learn a conditioned stimulus. Furthermore, we found increased levels in the total and phosphorylated forms of the fragile X mental retardation protein (FMRP) in the hippocampus of NS-Pten KO mice.
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9. Rudie JD, Dapretto M. {{Convergent evidence of brain overconnectivity in children with autism?}}. {Cell Rep};2013 (Nov 14);5(3):565-566.
In this issue of Cell Reports, Keown et al. and Supekar et al. report widespread increases in brain connectivity in children with autism. These studies challenge the widely established theory of underconnectivity in autism, suggesting a more complicated picture of brain connectivity alterations.
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10. Sandin S, Hultman C, Reichenberg A. {{Autism in children born after in vitro fertilization-reply}}. {JAMA};2013 (Nov 20);310(19):2101.
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11. Sizoo BB, van Wijngaarden-Cremers PJ, van der Gaag RJ. {{[Autism spectrum disorders and substance use disorders]}}. {Tijdschr Psychiatr};2013;55(11):873-878.
BACKGROUND: So far, little is known about the comorbidity of substance use disorders (<span class= »abbreviation »>sud</span>) and autism spectrum disorders (<span class= »abbreviation »>asd</span>). AIM: To increase our knowledge of <span class= »abbreviation »>sud</span> in <span class= »abbreviation »>asd</span> patients by means of a broad explorative study. METHOD: In a cross-sectional study 70 patients with <span class= »abbreviation »>asd</span> were compared with 53 patients with <span class= »abbreviation »>adhd</span>. Both groups included some patients with <span class= »abbreviation »>sud</span> and without <span class= »abbreviation »>sud</span>. Comparisons were drawn at three different levels: phenotype, endophenotype and genotype. RESULTS: At the phenotypical level, risk factors for <span class= »abbreviation »>sud</span> were similar for <span class= »abbreviation »>asd</span> and <span class= »abbreviation »>adhd</span> (early onset smoking, adverse family history, parental addiction). The subgroup <span class= »abbreviation »>asd</span>-with-<span class= »abbreviation »>sud</span> reported better social orientation than the subgroup <span class= »abbreviation »>asd</span> -without – <span class= »abbreviation »>sud</span>, in spite of having impaired functioning at the phenotypical level and more cognitive problems at the endophenotypical level. At the genetic level, <span class= »abbreviation »>asd</span> could be differentiated from <span class= »abbreviation »>adhd</span> on the basis of three candidate genes, but this differentiation was irrespective of <span class= »abbreviation »>sud</span> status. CONCLUSION: <span class= »abbreviation »>sud</span> occur less frequently with <span class= »abbreviation »>asd</span> than with <span class= »abbreviation »>adhd</span>, but when they occur, they are just as severe. These results have implications for treatment.
12. Taylor LJ, Maybery MT, Whitehouse AJ. {{Moving beyond behaviour-only assessment: Incorporating biomarkers to improve the early detection and diagnosis of autism spectrum disorders}}. {Int J Speech Lang Pathol};2013 (Nov 18)
This paper presents a response to the Camarata (2014) lead article regarding the accuracy and effectiveness of early identification and early intervention for young children with autism spectrum disorders (ASD). While Caramata focused heavily on the challenges of behavioural screening for ASD, we believe that he has overlooked the potential that the identification of ASD biomarkers may have for the early detection of the disorder. We propose that the discovery of biomarkers, particularly those that may be used in conjunction with behavioural screening, may provide an important next step in reliably detecting and accurately diagnosing ASD in the early years. This would have important clinical implications in terms of providing early intervention, which may alter the developmental path for the child.
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13. Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E. {{A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome}}. {Am J Med Genet A};2013 (Nov 15)
We report on a 21-year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS). Array-CGH analysis showed a 2.89 Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS. (c) 2013 Wiley Periodicals, Inc.
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14. Vaiouli P, Grimmet K, Ruich LJ. {{« Bill is now singing »: Joint engagement and the emergence of social communication of three young children with autism}}. {Autism};2013 (Nov 19)
Young children with autism spectrum disorder meet significant challenges in joint attention skills and in social communication. A child-centered, improvisational, music therapy intervention model was implemented to promote engagement in three young children with autism in a kindergarten classroom. A multiple baseline design compared the children’s performance through three phases of intervention: focus on faces, response to joint attention, and initiation of joint attention. A complimentary qualitative analysis of teacher and parent experiences allowed for an in-depth understanding of the role of social environment in supporting emerging social communication skills among three children. As all children showed improvement in joint attention and actions of social engagement, this study bears evidence on the potential of music therapy as a promising intervention for promoting social skills of young children with autism spectrum disorder.
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15. Volk HE, Kerin T, Lurmann F, Hertz-Picciotto I, McConnell R, Campbell DB. {{Autism Spectrum Disorder: Interaction of Air Pollution with the MET Receptor Tyrosine Kinase Gene}}. {Epidemiology};2013 (Nov 14)
BACKGROUND:: Independent studies report association of autism spectrum disorder with air pollution exposure and a functional promoter variant (rs1858830) in the MET receptor tyrosine kinase (MET) gene. Toxicological data find altered brain Met expression in mice after prenatal exposure to a model air pollutant. Our objective was to investigate whether air pollution exposure and MET rs1858830 genotype interact to alter the risk of autism spectrum disorder. METHODS:: We studied 252 cases of autism spectrum disorder and 156 typically developing controls from the Childhood Autism Risk from Genetics and the Environment Study. Air pollution exposure was assigned for local traffic-related sources and regional sources (particulate matter, nitrogen dioxide, and ozone). MET genotype was determined by direct resequencing. RESULTS:: Subjects with both MET rs1858830 CC genotype and high air pollutant exposures were at increased risk of autism spectrum disorder compared with subjects who had both the CG/GG genotypes and lower air pollutant exposures. There was evidence of multiplicative interaction between NO2 and MET CC genotype (P= 0.03). CONCLUSIONS:: MET rs1858830 CC genotype and air pollutant exposure may interact to increase the risk of autism spectrum disorder.
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16. Weiss JA, Wingsiong A, Lunsky Y. {{Defining crisis in families of individuals with autism spectrum disorders}}. {Autism};2013 (Nov 19)
Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health-related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can serve as a guide in delivering service to at-risk families. This study investigated the subjective experience of crisis in 155 mothers of children diagnosed with autism spectrum disorder. Thematic analysis revealed that crisis is characterized by factors influencing four major areas: demands, internal capabilities, external resources, and subjective appraisal. Understanding what crisis means to families of individuals with autism spectrum disorder can help inform effective preventative and crisis services.
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17. Wilson BJ, Manangan CN, Dauterman HA, Davis HN. {{ADHD Symptoms Moderate the Relation Between ASD Status and Internalizing Symptoms in 3-6-Year-Old Children}}. {J Autism Dev Disord};2013 (Nov 16)
The current study sought to understand the relation between diagnostic status (autism spectrum disorders [ASD] versus typically developing) and internalizing problems in children with and without co-occurring attention deficit hyperactivity disorder (ADHD) symptoms. Participants were 88 children, ages 3:0-6:11, their parents and teachers. Findings indicated that ADHD symptoms moderated the relation between diagnostic status and depressive and somatic symptoms. High ADHD symptoms in children with ASD were associated with increased depressive and somatic symptoms compared to children with typical development. Findings suggest poor prognostic outcomes for children with ASD and co-occurring ADHD symptoms and highlight the need for early identification and targeted intervention.
